Canonical Allele Identifier: CA394556218

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779564G>C (hg19) ; chr16:g.3729563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729563G>C , CM000678.2:g.3729563G>C	GRCh38
NC_000016.9:g.3779564G>C , CM000678.1:g.3779564G>C	GRCh37
NC_000016.8:g.3719565G>C	NCBI36
NG_009873.1:g.155558C>G
NG_009873.2:g.156151C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5484C>G MANE Select	ENSP00000262367.5:p.Tyr1828Ter
ENST00000262367.9:c.5484C>G	ENSP00000262367.5:p.Tyr1828Ter
ENST00000382070.7:c.5370C>G	ENSP00000371502.3:p.Tyr1790Ter
NM_001079846.1:c.5370C>G	NP_001073315.1:p.Tyr1790Ter
NM_004380.2:c.5484C>G	NP_004371.2:p.Tyr1828Ter
XM_005255124.3:c.5439C>G	XP_005255181.1:p.Tyr1813Ter
XM_005255125.3:c.5067C>G	XP_005255182.1:p.Tyr1689Ter
XM_006720848.2:c.5223C>G	XP_006720911.1:p.Tyr1741Ter
XM_011522380.1:c.5430C>G	XP_011520682.1:p.Tyr1810Ter
XM_011522381.1:c.4731C>G	XP_011520683.1:p.Tyr1577Ter
XM_005255124.4:c.5439C>G	XP_005255181.1:p.Tyr1813Ter
XM_005255125.4:c.5067C>G	XP_005255182.1:p.Tyr1689Ter
XM_006720848.3:c.5223C>G	XP_006720911.1:p.Tyr1741Ter
XM_011522381.2:c.4731C>G	XP_011520683.1:p.Tyr1577Ter
XM_017022944.1:c.5478C>G	XP_016878433.1:p.Tyr1826Ter
NM_004380.3:c.5484C>G MANE Select	NP_004371.2:p.Tyr1828Ter